Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Amber Pursley"'
Autor:
Erin K. Roney, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Srirangan Sampath, Justin Pham, James R. Lupski, Weimin Bi, Tomasz Gambin, Patricia Hixson, Seema R. Lalani, Amber Pursley, Pawel Stankiewicz, Chad A. Shaw, Sung-Hae L. Kang
Publikováno v:
European Journal of Human Genetics
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several well-defined genetic syndromes as well as contribute to phenotypic variation in diseases. However, somatic mosaicism is often under-diagnosed due to challenges i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60960dc60b4815184cf9e2f4f418f758
http://europepmc.org/articles/PMC4350600
http://europepmc.org/articles/PMC4350600
Autor:
Pawel Stankiewicz, Amber Stocco, Marwan Shinawi, Leslie J. Allison, Amber Pursley, Steven Sparagana, Diana L. Rodriguez, William J. Craigen, John W. Belmont, Beth A. Kozel, Ankita Patel, Thaddeus W. Kurczynski, Sau Wai Cheung, Sarah Savage, Gary D. Clark, Stephen Amato, Frank J. Probst, Monica Proud, Elizabeth Roeder, Jennifer A. Lee, James R. Lupski, Daryl A. Scott, Susan G. McGrew, Pengfei Liu, Arthur L. Beaudet, Sung Hae L. Kang, Joseph J. Shen, Brett H. Graham
Publikováno v:
Journal of Medical Genetics. 47:332-341
Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (compar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::533150e2e054efa0b939edb3d816dbfd
https://doi.org/10.1136/jmg.2009.073015
https://doi.org/10.1136/jmg.2009.073015
Autor:
Zhishuo Ou, Yong-hui Jiang, M. Lance Cooper, Sau Wai Cheung, Sung-Hae L. Kang, Jose E. Martinez, Amber Pursley
Publikováno v:
American Journal of Medical Genetics Part A. :1986-1993
Paracentric inversions are one of the common chromosomal rearrangements typically associated with a normal phenotype. However, if dosage-sensitive genes are disrupted by the breakpoints, an abnormal phenotype could result. Detection of paracentric in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60a05e78fc04d7eda8cde8b85b1fb4b
https://doi.org/10.1002/ajmg.a.32408
https://doi.org/10.1002/ajmg.a.32408
Autor:
Jonathan S. Berg, Pawel Stankiewicz, Marta Smyk, Bridget A. Fernandez, Amber Pursley, Fiona K. Curtis, James R. Lupski, Sau Wai Cheung, Gabriel A. Bien-Willner
Publikováno v:
Human Genetics. 122:63-70
Deletion of the dosage sensitive gene NR0B1 encoding DAX1 on chromosome Xp21.2 results in congenital adrenal hypoplasia (AHC), whereas NR0B1 duplication in 46,XY individuals leads to gonadal dysgenesis and a female phenotype. We describe a 21-year-ol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::afb8346ecece174d53bd31fa7964cb50
https://doi.org/10.1007/s00439-007-0373-8
https://doi.org/10.1007/s00439-007-0373-8
Autor:
Harold N. Bass, Rebecca Mardach, Blaire L. Brown, Amber Pursley, Shulin Zhang, Lee-Jun C. Wong, Ellen K. Brundage, Fang yuan Li, Eric S. Schmitt
Publikováno v:
Molecular genetics and metabolism. 99(1)
Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. Defects in TK2 mainly cause a myopathic form of the mitochond
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f44392936050c32d21f3b4883bbb77d
https://pubmed.ncbi.nlm.nih.gov/19815440
https://pubmed.ncbi.nlm.nih.gov/19815440
Autor:
Amber Pursley, Magdalena Nawara, Y. Jane Tavyev, Pengfei Liu, James R. Lupski, Claudia M.B. Carvalho, Angela Maria Vianna-Morgante, Sau Wai Cheung, Trilochan Sahoo, Huda Y. Zoghbi, Feng Zhang, Ankita Patel, Pawel Stankiewicz, Chad A. Shaw, Sandra Peacock, Melissa B. Ramocki, Carlos A. Bacino, Ewa Obersztyn
Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d42334157b5e1dc98d1811e8b24a924
https://europepmc.org/articles/PMC2685756/
https://europepmc.org/articles/PMC2685756/
Autor:
Patricia A. Ward, Katie Plunkett, Pilar L. Magoulas, Patti Furman, Ankita Patel, Sau Wai Cheung, Christine M. Eng, Sandra Darilek, Amber Pursley
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 10(1)
Recently, a new genetic test has been developed that allows a more detailed examination of the genome when compared with a standard chromosome analysis. Array comparative genomic hybridization (CGH microarray; also known as chromosome microarray anal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7891c36b4087e97e23c6b5e12e0090ec
https://pubmed.ncbi.nlm.nih.gov/18197052
https://pubmed.ncbi.nlm.nih.gov/18197052
Autor:
Marcia J, Simovich, Svetlana A, Yatsenko, Sung-Hae L, Kang, Sau Wai, Cheung, Martha E, Dudek, Amber, Pursley, Patricia A, Ward, Ankita, Patel, James R, Lupski
Publikováno v:
Prenatal diagnosis. 27(12)
Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3).High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd6280d009d94f7bc23e938f0133a759
https://pubmed.ncbi.nlm.nih.gov/17849500
https://pubmed.ncbi.nlm.nih.gov/17849500
Autor:
Carlos A. Bacino, Sau Wai Cheung, David T. Miller, Robert P. Erickson, Andrea L. Gropman, Pawel Stankiewicz, Jiangzhen Li, Margretta R. Seashore, James R. Lupski, A. Craig Chinault, Ankita Patel, Trilochan Sahoo, Arthur L. Beaudet, Amber Pursley, Chad A. Shaw, Daryl A. Scott, Anne Summers, V. Reid Sutton
Publikováno v:
American journal of medical genetics. Part A. (15)
Somatic chromosomal mosaicism is a well-established cause for birth defects, mental retardation, and, in some instances, specific genetic syndromes. We have developed a clinically validated, targeted BAC clone array as a platform for comparative geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8b961a896bf6c1fd44d0c9c1d455d51
https://pubmed.ncbi.nlm.nih.gov/17607705
https://pubmed.ncbi.nlm.nih.gov/17607705
Autor:
Amber Pursley, William J. Craigen, Ankita Patel, James R. Lupski, Jeffrey L. Neul, Ping Fang, Sau Wai Cheung, Debra Freedenberg, Theresa A. Grebe, Gary E. Hsich, Jena R Khera, Fernando Scaglia, Mira Irons, Arthur L. Beaudet, Jennifer A. Lee, Susan A. Berry, Benjamin B. Roa, Daniel G. Glaze, Daniela del Gaudio, Christine M. Eng, Huda Y. Zoghbi, Patricia A. Ward, Neil R. Friedman, Rick A. Martin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 8(12)
Purpose: Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5fe64aa07b8fc24350465e3e867f038
https://pubmed.ncbi.nlm.nih.gov/17172942
https://pubmed.ncbi.nlm.nih.gov/17172942